ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.473_*3dup (p.Lys158_Ter160=) (rs878854596)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226713 SCV000287829 uncertain significance Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 2016-03-11 criteria provided, single submitter clinical testing This sequence change falls in the 3'UTR of the SDHD gene and inserts 11 nucleotides in the 3'UTR of the SDHD gene (c.473_*3dup). The duplicated sequence fall within the last exon of SDHD and extends into the 3'UTR. The duplication may not change the encoded amino acid sequence of the SDHD protein, therefore preserving the integrity of reading frame. This duplication is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SDHD-related disease. In summary, this variant is a novel duplication with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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